ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)

dbSNP: rs1247378731
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672395 SCV000797494 likely pathogenic Fanconi anemia complementation group A 2018-01-26 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000672395 SCV000889967 pathogenic Fanconi anemia complementation group A 2017-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001384720 SCV001584343 pathogenic Fanconi anemia 2021-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr843*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Fanconi anemia (PMID: 15643609, 16084127). ClinVar contains an entry for this variant (Variation ID: 556394).
Baylor Genetics RCV000672395 SCV004196097 pathogenic Fanconi anemia complementation group A 2024-03-23 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000672395 SCV001425824 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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